ESPE Abstracts

Background: Protein subfamilies within the Nuclear receptor (NR) family share common domain architecture. These closely related receptors and their cognate ligand compounds play a key role in homeostasis, reproduction, growth, and development. Despite their biological significance, their evolution and diversification remains to be elucidated. SNPs and mutations are characterized by the permanent alteration of the nucleotide sequence in the genome of an organism. These alterati...

Background: Apoptosis is a programmed sequence of events towards cell death. Blood vessels employ apoptosis for remodeling during development and to maintain homeostasis during adulthood. The atherosclerotic process begins in early childhood and is correlated with obesity and metabolic disorders.Objective and hypotheses: To investigate the correlation of apoptotic marker Apo-1/Fas with children’s biochemical and anthropometric characteristics.<p...

Background: Wolfram syndrome (WS or DIDMOAD) is a rare (prevalence of 1/770,000) autosomal recessive multi-systemic neurodegenerative disease, characterized by non-autoimmune diabetes mellitus (DM) and optic atrophy. Additional features include diabetes insipidus (DI), sensorineural deafness, urinary tract abnormalities, ataxia, psychiatric illness, and other endocrine disturbances leading to death in mid-adulthood. This syndrome is caused by recessive mutations in the wolfram...

Background: Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. Approximately 95% of cases are caused by a deficiency of the 21-hydroxylase enzyme. Its deficiency leads to androgen excess, consequently, to virilization and rapid somatic growth with accelerated skeletal maturation. Mutations in CYP21A2 are responsible for different forms of 21-hydroxylase defi...

Background: Elevated blood pressure (BP) may occur from childhood, increasing the risk for hypertension in adulthood.Aim: To investigate the effect of anthropometric characteristics and lifestyle habits in children’s and adolescents’ BP.Methods: 949 children (<12 years old) from Lakonia, 178 teenagers (12–18 years old) from Athens and 372 from Kalamata, Greece, had participated during 2011–2014. A specially ...

Background: Uric acid and Triglycerides/HDL ratio are an important risk factor for cardiovascular diseases.Aim: To investigate how Triglycerides/HDL ratio and uric acid are correlated with children’s biochemical and anthropometric characteristics, depending on the predisposition for metabolic syndrome (MetSyn).Methods: 110 students, 6–12 years old, living in Sparta-Greece, participated in our research. Anthropometric and ...

Introduction: Thyroid hormone resistance (THR) is a rare disease (&ap; 1/50000) mainly due to thyroid hormone receptor beta gene (THRB) mutations, generally identified in late childhood and adulthood. We report 2 atypical cases of neonatal diagnosis of THR.Case 1: The newborn presented with neonatal respiratory distress due to a voluminous compressive goiter, requiring invasive ventilation. Thyroid function test...

Background: The N-acetyltransferase 2 (NAT2) A803G polymorphism leading to substitution of lysine to arginine at residue 268 and codifying for a cytosolic enzyme catalysing acetyl-CoA-dependent N- and O-acetylation reactions, has been associated with decreased insulin sensitivity in a large adult population with the A allele associated with insulin resistance (IR)-related traits.Objective and hypotheses: We screened for this polymorphism, for th...

Background: Studies examining vitamin D levels in association with childhood obesity usually do not concurrently measure levels of vitamin D-binding protein and do not calculate the unbound, bioavailable vitamin D, that is considered the fraction of 25-hydroxyvitamin D able to exert biological activity.Objective and hypotheses: To evaluate in a group of children for the most part obese i) the concentrations of both total 25-hydroxyvitamin D and of the bi...

Background: Metabolic and hemodynamic obesity-related disorders are a major risk factor for cardiovascular disease in children with excess body fat mass. Studies in adults suggest that serum homocysteine is a marker of atherosclerosis and is associated with vascular dysfunction. Studies in children are inconclusive. The aim of the study was to evaluate the association between homocysteine concentrations and lipid and carbohydrate metabolism parameters in obese...